Characterization of a humanized mouse model for Malan syndrome

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Awardee: Dr. Michael Piper (Principal Investigator)

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Institution: The University of Queensland (Australia)

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Grant Amount: Year 1- $75,000 USD; Year 2- $22,404 USD

 

Funding Period: August 1, 2025 - July 31, 2027

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Summary:

 

Dr. Piper and his team will characterize a humanized mouse model for Malan syndrome. Humanized mice, in which elements of human DNA are used to replace their counterparts in the mouse genome, have been used to study a range of disorders, including Alzheimer’s disease. Being able to study how the expression of the human gene is controlled is absolutely critical to understanding how the human gene functions. 

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Questions that Dr. Piper's research will address include:

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1) Do the mice in our preclinical model for Malan syndrome exhibit behavioral deficits that map to intellectual disability (e.g. cognitive capability, learning and memory, social interaction, communication)? 

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2) When do symptoms arise in this model? 

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3) How is neuronal function altered in the humanized Malan model? 

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The primary objective of this research is to comprehensively characterize this model and apply it in preclinical studies to identify therapeutic interventions for the neurological manifestations of Malan syndrome.

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